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1.
Biol Trace Elem Res ; 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38963645

RESUMO

The present investigation explored the potential neuroprotective role of zinc oxide nanoparticles (ZnONPs) on aluminum chloride (AlCl3)-mediated Alzheimer's disease (AD)-like symptoms. Rats were distributed into four treatment groups equally: control, ZnONPs (4 mg/kg b.wt.), AlCl3 (100 mg/kg b.wt.), and ZnONPs + AlCl3 groups. Rats were treated for 42 consecutive days. ZnONPs injection into AlCl3-treated rats suppressed the development of oxidative challenge in the cortical and hippocampal tissues, as demonstrated by the decreased neuronal pro-oxidants (malondialdehyde and nitric oxide), and the increased glutathione and catalase levels. Additionally, ZnONPs injection showed anti-inflammatory potency in response to AlCl3 by decreasing levels of tumor necrosis factor-α and interleukin-1ß. Moreover, pretreatment with ZnONPs prevented neuronal cell loss by decreasing the level of pro-apoptotic caspase-3 and enhancing the anti-apoptotic B cell lymphoma 2. Furthermore, ZnONPs ameliorated the disturbed acetylcholinesterase activity, monoamines (norepinephrine, dopamine, and serotonin), excitatory (glutamic and aspartic acids), and inhibitory amino acids (GABA and glycine) in response to AlCl3 exposure. These findings indicate that ZnONPs may have the potential as an alternative therapy to minimize or prevent the neurological deficits in AD model by exhibiting antioxidative, anti-inflammation, anti-apoptosis, and neuromodulatory effects.

2.
Ann Med Surg (Lond) ; 86(7): 3865-3872, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38989212

RESUMO

Background: Diabetic ketoacidosis (DKA) is the most serious metabolic complication of type 1 diabetes mellitus (T1DM). Insulin deficiency and inflammation play a role in the pathogenesis of DKA. The authors aimed to assess the systemic immune-inflammation index (SII) as a marker of severity among T1DM patients with DKA and without infection. Methods: The authors included T1DM patients older than or equal to 12 years hospitalized because of DKA. The authors excluded patients with infection or any condition that can change SII parameters or cause metabolic acidosis. The authors compared SII, neutrophil-lymphocyte ratio (NLR), and platelet-lymphocyte ratio (PLR) between severe and non-severe DKA groups. The authors also assessed the need for an ICU, length of stay, and 90-day readmission rate between the groups. Results: The study included 241 patients with a median age of 17 (14, 24) years, and 44.8% were males. More patients with severe DKA (45%) required ICU admission (P<0.001). Median SII increased with DKA severity, and the difference was significant (P=0.033). No significant difference was observed as regards median NLR or PLR (P=0.380 and 0.852, respectively). SII, but not NLR or PLR, had a significant negative correlation with PH (r=-0.197, P=0.002) and HCO3 level (r=-0.144, P=0.026). Also, being in the highest SII quartile was an independent risk factor for DKA severity (OR, 2.522; 95% CI, 1.063-6.08; P=0.037). The authors estimated an SII cut-off value of 2524.24 to predict DKA severity with high specificity. Conclusion: Elevated SII is a risk factor for DKA severity in T1DM. It is better than NLR and PLR in prognosticating DKA patients. These findings highlight the role of inflammation in DKA. SII can help as a valuable and simple tool to assess DKA severity.

3.
Mol Cytogenet ; 17(1): 16, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39010086

RESUMO

BACKGROUND: Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psycho-emotional impact if not appropriately managed. The genetic changes that can give rise to DSD are diverse, from chromosomal alterations to single base variants involved in the sexual development network. Epidemiological studies about DSD indicate a global frequency of 1:4500-5500, which can increase to 1:200-300, including isolated anatomical defects. To our knowledge, this study is the first to describe epidemiological and genetic features of DSD in a cohort of Mexican patients of a third-level care hospital. METHODS: Descriptive and retrospective cross-sectional study that analyzed DSD patients from 2015 to 2021 attended a Paediatric Hospital from Mexico City. RESULTS: One hundred one patients diagnosed with DSD were registered and grouped into different entities according to the Chicago consensus statement and the diagnosis defined by the multidisciplinary group. Of the total, 54% of them belong to the chromosomal DSD classification, 16% belongs to 46, XX and 30% of them belongs to the 46, XY classification. CONCLUSION: The frequency for chromosomal DSDs was consistent with the literature; however, we found that DSD 46, XY is more frequent in our cohort, which may be due to the age of the patients captured, the characteristics of our study population, or other causes that depend on the sample size.

4.
Clin Case Rep ; 12(7): e9169, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39005576

RESUMO

Key Clinical Message: Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Abstract: Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum-dependent enzymes, resulting in conspicuous elevated urine sulfite levels and lowered serum uric acid levels. The disorder may be early-onset, causing high fatality in neonates due to secondary complications, or late-onset, manifesting in the first 2 years of life. Severe seizures, progressive neurological degeneration, motor abnormalities, and feeding difficulties are hallmarks of MoCD. Due to the similarity of clinical findings with those of sulfite oxidase deficiency and its neurological findings with hypoxic-ischemic encephalopathy, determining the true etiology remains challenging in MoCD patients. This case report presents a neonate in the first week of life with early onset refractory seizures, motor abnormalities, hypoactivity, and poor feeding behavior. Administering anti-epileptic drugs did not improve the patient's condition, who started decompensating further. Nevertheless, a thorough screening for metabolic disorders revealed low serum uric acid and high sulfite levels in the urine, indicating potential MoCD. A whole exome sequencing (WES) was thus consulted for confirmatory diagnosis. Unfortunately, the patient's WES results were received after his demise, revealing MoCD caused by a novel variant of the MoCS2 gene that has not yet been reported to the best of our knowledge. This case emphasizes the need to disseminate crucial information regarding MoCD and its etiologies for prompt molecular diagnosis to reduce morbidity and mortality.

6.
Blood Adv ; 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39042903

RESUMO

The safety and efficacy of CAR T-cell therapy is not well described in older patients, a population that has higher frailty and co-morbidities. In this multicenter retrospective study, we evaluated clinical outcomes along with frailty and geriatric characteristics such as comorbidities, polypharmacy, falls, neuropathy, organ dysfunction, and performance status in younger (<65 years) versus older (≥65 years) patients who received commercial idecabtagene vicleucel (ide-cel). A total of 156 patients (n=75, ≥65 years) were infused with ide-cel by data cut-off. In older patients (median age: 69 years, range: 65-83 years; 66.7% frail; 77.3% did not meet KarMMa eligibility criteria), with a median follow-up duration of 14.2 months, best overall response rate (ORR) was 86.7%, which was comparable to pivotal KarMMa study results (ORR: 73%). Median progression-free survival (PFS) and overall survival (OS) in older patients were 9.1 months and 26.5 months, respectively. Grade 3 or higher cytokine-release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) were observed in 1% and 4% of older patients, respectively. Compared to younger patients, the older patients had significantly higher prevalence of frailty, geriatric characteristics such as polypharmacy (5+ drugs; 97%), 4+ comorbidities (69%), and organ dysfunction (35%) (p<0.05). The safety and efficacy of ide-cel therapy were similar in younger and older patients. Frailty and geriatric characteristics such as polypharmacy, comorbidities, and organ dysfunction in older patients did not confer an inferior overall outcome.

8.
Small ; : e2401891, 2024 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-39004881

RESUMO

Various polytypes of van der Waals (vdW) materials can be formed by sulfur and tin, which exhibit distinctive and complementary electronic properties. Hence, these materials are attractive candidates for the design of multifunctional devices. This work demonstrates direct selective growth of tin sulfides by laser irradiation. A 532 nm continuous wave laser is used to synthesize centimeter-scale tin sulfide tracks from single source precursor tin(II) o-ethylxanthate under ambient conditions. Modulation of laser irradiation conditions enables tuning of the dominant phase of tin sulfide as well as SnS2/SnS heterostructures formation. An in-depth investigation of the morphological, structural, and compositional characteristics of the laser-synthesized tin sulfide microstructures is reported. Furthermore, laser-synthesized tin sulfides photodetectors show broad spectral response with relatively high photoresponsivity up to 4 AW-1 and fast switching time (τ rise = 1.8 ms and τ fall = 16 ms). This approach is versatile and can be exploited in various fields such as energy conversion and storage, catalysis, chemical sensors, and optoelectronics.

9.
Heart Fail Rev ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39014135

RESUMO

Heart failure (HF) is considered one of a leading cause of cardiovascular morbidity and mortality worldwide. The association between HF and venous thromboembolism (VTE) has been reported in several studies owing to many physiological and thromboembolic risk factors. Thus, the need for extended thromboprophylaxis during the post-discharge period in HF patients has been evaluated. Most guidelines do not recommend extended thromboprophylaxis because of its uncertain benefits and increased risk of bleeding. However, recent evidence in HF patients revealed no increased risk of bleeding with extended thromboprophylaxis, which highlights the importance of identifying ideal candidates who might benefit from extended thromboprophylaxis. Several risk assessment models (RAMs) have been developed to identify patients at a high risk of VTE who would benefit from in-hospital and post-discharge prophylactic anticoagulation therapy based on the risk-benefit principle. However, their accuracy in predicting VTE is questionable, and none have a standardized approach for evaluating the risk of VTE in HF patients. In this review, we provided an overview of the incidence and pathophysiology of VTE in HF patients, a summary of guideline recommendations for VTE prevention, and a summary of studies evaluating the use of extended thromboprophylaxis, with a focus on subgroup or post-hoc analyses of HF patients. We also discussed the need to design an ideal RAM that can identify candidate patients for extended thromboprophylaxis by stratifying the risk of VTE and identifying the key risk factors for bleeding in medically ill patients, including those with HF.

10.
Sci Rep ; 14(1): 16424, 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39013935

RESUMO

Lately, children's daily consumption of some products, such as cereals and candies, has been rising, which provides a compelling rationale for determining any metallic substances that may be present. Monitoring the concentration of certain metals, like nickel, in these products is necessary due to medical issues in humans when consumed regularly. So, in this work, a novel and highly selective carbon paste as a Ni(II) ion-selective sensor was prepared and investigated using ceramic magnesium aluminum spinel nanoparticles as the ionophore and tritolyl phosphate (TOCP) as a plasticizer. A modified co-precipitation method was used to synthesize the spinel nanoparticles. X-ray diffraction, scanning electron microscope with EDAX, transmission electron microscope, and BET surface area were used to determine the phase composition, microstructure, pores size, particle size, and surface area of the synthesized nanoparticles. The spinel nanoparticle was found to have a nano crystallite size with a cubic crystal system, a particle size ranging from 17.2 to 51.52 nm, mesoporous nature (average pore size = 8.72 nm), and a large surface area (61.75 m2/g). The composition ratio of graphite carbon as a base: TOCP as binder: spinal as ionophore was 67.3:30.0:2.7 (wt%) based on potentiometric detections over concentrations from 5.0 × 10-8 to 1.0 × 10-2 mol L-1 with LOD of 5.0 × 10-8 mol L-1. A measurement of 29.22 ± 0.12 mV decade-1 over pH 2.0-7.0 was made for the Nernstian slope. This sensor demonstrated good repeatability over nine weeks and a rapid response of 8 s. A good selectivity was shown for Ni(II) ions across many interferents, tri-, di-, and monovalent cations. The Ni(II) content in spiked real samples, including cocaine, sweets, coca, chocolate, carbonated drinks, cereals, and packages, were measured. The results obtained indicated no significant difference between the proposed potentiometric method and the officially reported ICP method according to the F- and t-test data. In addition to utilizing ANOVA statistical analysis, validation procedures have been implemented, and the results exceed the ICP-MS methodology.


Assuntos
Níquel , Níquel/análise , Níquel/química , Humanos , Criança , Óxido de Magnésio/química , Técnicas Eletroquímicas/métodos , Óxido de Alumínio/química , Nanopartículas/química , Magnésio/química , Magnésio/análise , Íons/análise , Difração de Raios X , Ionóforos/química
11.
Clin Exp Med ; 24(1): 164, 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39039277

RESUMO

Chronic spontaneous urticaria (CSU) is an immunological disease that is depicted by high prevalence and eminent burden for patients and society that is attributable to the arbitrary nature of symptoms and inconsistent tools for assessment of activity and severity. Transglutaminase-2 (TG2) is a posttranslational enzyme that is pervasively expressed in many cells and tissue types including mast cells. It has various biological functions, and its role in allergic disorders has been highlighted and delineated through several postulated mechanisms. This case-control study aimed at determining the relationship between serum levels TG2 and severity of CSU. To the best of our knowledge, this is the first study in Egypt to determine the relationship between serum TG2 and severity of CSU. We enrolled 60 adult patients with confirmed diagnosis of CSU. According to urticaria activity score (UAS), patients were categorized into three groups [20 with mild disease; UAS = 0, 20 with moderate disease; UAS = 1-3, 20 with severe disease; UAS = 4-6]. Another 20 healthy individuals (age and gender matched) served as a control group. All patients were subjected to detailed medical history, clinical examination, complete blood count with differential, serum total IgE, CRP, ESR, TSH, ANA, liver and renal function tests. Serum level of TG2 was done by quantitative ELISA for all enrolled patients and controls. Serum TG2 is significantly higher in patients group compared to control group (P value < 0.001). Serum TG2 levels were significantly higher in patients with severe disease compared to patients with moderate or mild disease. This is illustrated by the significant positive correlation between serum TG2 and UAS (r 0.814 and P value 0.000). Moreover, serum TG2 accurately classified CSU patients into mild, moderate and severe subgroups: as regards differentiation between mild and moderate cases (sensitivity 70%, specificity 80%, PPV 77.8, NPV 72.7) and as for the differentiation between moderate and severe cases (sensitivity 95%, specificity 90%, PPV 90.5, NPV 94.7). Serum TG2 may have a pivotal role as a marker of severity in patients with CSU.


Assuntos
Biomarcadores , Proteína 2 Glutamina gama-Glutamiltransferase , Urticária , Proteína 2 Glutamina gama-Glutamiltransferase/sangue , Urticária/sangue , Urticária/patologia , Doença Crônica , Gravidade do Paciente , Biomarcadores/sangue , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Valor Preditivo dos Testes , Imunoglobulina E/sangue , Proteína C-Reativa/metabolismo , Contagem de Células Sanguíneas
12.
bioRxiv ; 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39005402

RESUMO

Proper regulation of organelle dynamics is critical for cellular function, but the mechanisms coordinating multiple organelles remain poorly understood. Here we show that actin polymerization mediated by the endoplasmic reticulum (ER)-anchored formin INF2 acts as a master regulator of organelle morphology and movement. Using high-resolution imaging, we demonstrate that INF2-polymerized actin filaments assemble at ER contact sites on mitochondria, endosomes, and lysosomes just prior to their fission. Genetic manipulation of INF2 activity alters the size, shape and motility of all three organelles. Our findings reveal a conserved mechanism by which the ER uses actin polymerization to control diverse organelles, with implications for understanding organelle dysfunction in neurodegenerative and other diseases. This work establishes INF2-mediated actin assembly as a central coordinator of organelle dynamics and inter-organelle communication.

13.
Invest Ophthalmol Vis Sci ; 65(8): 27, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39017633

RESUMO

Purpose: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D). Methods: Molecularly-confirmed individuals had data extracted from medical records. Retinal imaging was extracted from an in-house database. The main outcome measurements were retinal imaging and electroretinography (ERG) and clinical findings, including age of onset, symptoms, best-corrected visual acuity (BCVA), outer nuclear layer (ONL) thickness, ellipsoid zone width (EZW), and hyperautofluorescent ring area. Results: Thirty-one patients were identified, harboring 40 variants in CDH23 (10 being novel). The mean (range, ±SD) age of symptom onset was 10.1 years (range = 1-18, SD = ±4.1). The most common visual symptoms at presentation were nyctalopia (93.5%) and peripheral vision difficulties (61.3%). The mean BCVA at baseline was 0.25 ± 0.22 in the right eyes and 0.35 ± 0.58 LogMAR in the left eyes. The mean annual loss rate in BCVA was 0.018 LogMAR/year over a mean follow-up of 9.5 years. Individuals harboring the c.5237G>A p.(Arg1746Gln) allele had retinitis pigmentosa (RP) sparing the superior retina. Seventy-seven percent of patients had hyperautofluorescent rings in fundus autofluorescence. Full-field and pattern ERGs indicated moderate-severe rod-cone or photoreceptor dysfunction with relative sparing of macular function in most patients tested. Optical coherence tomography (OCT) revealed intraretinal cysts in the transfoveal B-scan of 13 individuals (43.3%). The rate of EZW and ONL thickness loss was mild and suggestive of a wide window of macular preservation. Conclusions: Despite the early onset of symptoms, USH1D has a slowly progressive phenotype. There is high interocular symmetry across all parameters, making it an attractive target for novel therapies.


Assuntos
Caderinas , Eletrorretinografia , Tomografia de Coerência Óptica , Síndromes de Usher , Acuidade Visual , Humanos , Síndromes de Usher/genética , Síndromes de Usher/diagnóstico , Síndromes de Usher/fisiopatologia , Masculino , Feminino , Adolescente , Acuidade Visual/fisiologia , Criança , Tomografia de Coerência Óptica/métodos , Caderinas/genética , Adulto Jovem , Adulto , Pré-Escolar , Retina/diagnóstico por imagem , Retina/patologia , Lactente , Mutação , Pessoa de Meia-Idade , Estudos Retrospectivos , Fenótipo , Angiofluoresceinografia/métodos , Proteínas Relacionadas a Caderinas
14.
Front Cell Infect Microbiol ; 14: 1416537, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39040600

RESUMO

Infection of ruminants such as cattle with Mycobacterium avium subsp. paratuberculosis (MAP) causes Johne's disease, a disease characterized by chronic inflammation of the small intestine and diarrhoea. Infection with MAP is acquired via the faecal-to-oral route and the pathogen initially invades the epithelial lining of the small intestine. In this study we used an in vitro 3D mouse enteroid model to determine the influence of M cells in infection of the gut epithelia by MAP, in comparison with another bacterial intestinal pathogen of veterinary importance, Salmonella enterica serovar Typhimurium. The differentiation of M cells in the enteroid cultures was induced by stimulation with the cytokine receptor activator of nuclear factor-κB ligand (RANKL), and the effects on MAP and Salmonella uptake and intracellular survival were determined. The presence of M cells in the cultures correlated with increased uptake and intracellular survival of Salmonella, but had no effect on MAP. Interestingly neither pathogen was observed to preferentially accumulate within GP2-positive M cells.


Assuntos
Mycobacterium avium subsp. paratuberculosis , Salmonella typhimurium , Animais , Mycobacterium avium subsp. paratuberculosis/fisiologia , Salmonella typhimurium/fisiologia , Salmonella typhimurium/patogenicidade , Camundongos , Paratuberculose/microbiologia , Viabilidade Microbiana , Mucosa Intestinal/microbiologia , Bovinos , Células M
15.
BMC Plant Biol ; 24(1): 538, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38867179

RESUMO

BACKGROUND: The combination of compost and biochar (CB) plays an important role in soil restoration and mitigation strategies against drought stress in plants. In the current study, the impact of CB was determined on the characteristics of saline calcareous soil and the productivity of fenugreek (Trigonella foenum-graecum L.) plants. The field trials examined CB rates (CB0, CB10 and CB20 corresponding to 0, 10, and 20 t ha‒1, respectively) under deficit irrigation [DI0%, DI20%, and DI40% receiving 100, 80, and 60% crop evapotranspiration (ETc), respectively] conditions on growth, seed yield (SY), quality, and water productivity (WP) of fenugreek grown in saline calcareous soils. RESULTS: In general, DI negatively affected the morpho-physio-biochemical responses in plants cultivated in saline calcareous soils. However, amendments of CB10 or CB20 improved soil structure under DI conditions. This was evidenced by the decreased pH, electrical conductivity of soil extract (ECe), and bulk density but increased organic matter, macronutrient (N, P, and K) availability, water retention, and total porosity; thus, maintaining better water and nutritional status. These soil modifications improved chlorophyll, tissue water contents, cell membrane stability, photosystem II photochemical efficiency, photosynthetic performance, and nutritional homeostasis of drought-stressed plants. This was also supported by increased osmolytes, non-enzymatic, and enzymatic activities under DI conditions. Regardless of DI regimes, SY was significantly (P ≤ 0.05) improved by 40.0 and 102.5% when plants were treated with CB10 and CB20, respectively, as similarly observed for seed alkaloids (87.0, and 39.1%), trigonelline content (43.8, and 16.7%) and WP (40.9, and 104.5%) over unamended control plants. CONCLUSIONS: Overall, the application of organic amendments of CB can be a promising sustainable solution for improving saline calcareous soil properties, mitigating the negative effects of DI stress, and enhancing crop productivity in arid and semi-arid agro-climates.


Assuntos
Carvão Vegetal , Compostagem , Sementes , Solo , Trigonella , Trigonella/metabolismo , Trigonella/fisiologia , Trigonella/crescimento & desenvolvimento , Solo/química , Sementes/crescimento & desenvolvimento , Compostagem/métodos , Desidratação , Água/metabolismo , Salinidade
17.
Immunogenetics ; 76(4): 243-260, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38904751

RESUMO

HLA alleles are representative of ethnicities and may play important roles in predisposition to hematological disorders. We analyzed DNA samples for HLA-A, -B, -C, -DRB1, and -DQB1 loci, from 1550 patients and 4450 potential related donors by PCR-SSO (Polymerase chain reaction sequence-specific oligonucleotides) and estimated allele frequencies in donors and patients from 1550 families who underwent bone marrow transplantation (BMT) in Egypt. We also studied the association between HLA allele frequencies and incidence of acute myeloid leukemia, acute lymphoblastic leukemia, and severe aplastic anemia. The most frequently observed HLA class I alleles were HLA- A*01:01 (16.9%), A*02:01 (16.1%), B*41:01 (8.7%), B*49:01 (7.3%), C*06:02 (25.1%), and C*07:01 (25.1%), and the most frequently observed class II alleles were HLA-DRB1*11:01 (11.8%), DRB1*03:01 (11.6%), DQB1*03:01 (27.5%), and DQB1*05:01 (18.9%). The most frequently observed haplotypes were A*33:01~B*14:02 ~ DRB1*01:02 (2.35%) and A*01:01~B*52:01~DRB1*15:01 (2.11%). HLA-DRB1*07:01 was associated with higher AML odds (OR, 1.26; 95% CI, 1.02-1.55; p = 0.030). Only HLA-B38 antigen showed a trend towards increased odds of ALL (OR, 1.52; 95% CI, 1.00-2.30; p = 0.049) HLA-A*02:01, -B*14:02, and -DRB1*15:01 were associated with higher odds of SAA (A*02:01: OR, 1.35; 95% CI, 1.07-1.70; p = 0.010; B*14:02: OR, 1.43; 95% CI, 1.06-1.93; p = 0.020; DRB1*15:01: OR, 1.32; 95% CI, 1.07-1.64; p = 0.011). This study provides estimates of HLA allele and haplotype frequencies and their association with hematological disorders in an Egyptian population.


Assuntos
Alelos , Transplante de Medula Óssea , Frequência do Gene , Haplótipos , Doenças Hematológicas , Humanos , Egito , Masculino , Feminino , Adolescente , Adulto , Criança , Doenças Hematológicas/genética , Pré-Escolar , Transplante Homólogo , Leucemia Mieloide Aguda/genética , Adulto Jovem , Antígenos HLA/genética , Pessoa de Meia-Idade , Predisposição Genética para Doença , Lactente , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Anemia Aplástica/genética
18.
Clin Genet ; 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38863195

RESUMO

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726-1G>C and p.(Tyr289Cys). Electroretinography indicated a rod-cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra-ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non-null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.

19.
SAGE Open Med ; 12: 20503121241259993, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38881595

RESUMO

Background: Urinary tract infections caused by extended-spectrum beta-lactamase organisms pose a significant concern worldwide. Given the escalating prevalence of drug resistance and the limited data on the effectiveness of oral antibiotics in treating these infections, this study aimed to assess the clinical outcomes in adult patients with extended-spectrum beta-lactamase urinary tract infections treated with oral antibiotics. Methods: A retrospective observational cohort study was conducted at King Abdulaziz Medical City, Saudi Arabia, from January 2018 to December 2021. It included patients ⩾18 years with complicated or uncomplicated urinary tract infections from extended-spectrum beta-lactamase Enterobacterales and treated with oral antibiotics as step-down or mainstay therapy. All-cause clinical failure within 30 days post-discharge was evaluated as the efficacy outcome. Statistical analyses were performed using SPSS software. Results: Out of 643 screened patients, 152 patients met the inclusion criteria. The patients were divided into oral step-down therapy (51.3%) and oral-only (48.7%) groups. The majority (69.1%) were females, with a mean age of 62 years. Complicated urinary tract infections were diagnosed in (75.5%) of cases, and the predominant pathogen was E. coli (79.6%). Clinical failure was observed in 23.1% in the oral step-down group and 13.5% in the oral-only group, with no significant difference (p = 0.128). Total antibiotics duration was significantly lower in the oral-only group (8 days vs. 12.2 days; p < 0.001). Binary logistic regression identified elder age, diabetes mellitus history, and prior extended-spectrum beta-lactamase infection as predictors of clinical failure. Conclusion: This study suggests that both step-down or primary oral antibiotic treatment yielded similar clinical outcomes in managing patients with extended-spectrum beta-lactamase urinary tract infections. Further prospective studies are required to validate these findings.

20.
Cureus ; 16(5): e60420, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38883098

RESUMO

INTRODUCTION: Child abuse refers to any type of mistreatment of a child, perpetrated by a parent, caregiver, or another individual in a custodial capacity, which may lead to instances of physical, sexual, or emotional abuse. Physicians play a crucial role in identifying and managing this phenomenon in the healthcare setting, as the number of unreported cases increases globally. METHODS: A questionnaire-based cross-sectional study was conducted between 2022 and 2023 among physicians practicing in Saudi Arabia to assess their knowledge, awareness, and attitude toward child abuse. The data were analyzed using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York, United States). RESULTS: A total of 153 physicians were involved in this study, in which 65 participants (42.5%) indicated poor awareness of child abuse, while 79 participants (51.6%) indicated moderate knowledge of child abuse. Additionally, lack of knowledge was the most common barrier to reporting child abuse in 87 participants (56.9%). A positive significant correlation was identified between awareness and knowledge and between knowledge and attitude. Also, it was found that a higher attitude score was more associated with being male, having less experience, practicing in the emergency medicine department, and working in a governmental hospital. CONCLUSION: These results highlight the significance of implementing specialized training programs and workshops focused on identifying and reporting child abuse, as well as providing guidelines for recognizing signs of abuse and taking appropriate intervention measures.

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